Charcot-Marie-Tooth disease dominant intermediate C

A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35.

Signs and symptoms

• Hand muscle weakness
• Decreased motor nerve conduction velocity
• Gait disturbance
• Distal amyotrophy
• Distal muscle weakness
• Areflexia
• Difficulty running
• Distal sensory impairment
• Decreased sensory nerve conduction velocity
• Abnormal foot morphology

Also known as: CMTDIC; Charcot-Marie-Tooth neuropathy dominant intermediate C; DI-CMTC; autosomal dominant intermediate Charcot-Marie-Tooth disease type C